Mutagenetix > Incidental Mutations

Incidental Mutation 'R0378:Tmem108'

36475

Institutional Source

Beutler Lab

Gene Symbol

Tmem108

Ensembl Gene

ENSMUSG00000042757

Gene Name

transmembrane protein 108

Synonyms

B130017P16Rik

MMRRC Submission

038584-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0378 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103482947-103761837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103499657 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 198 (R198G)

Ref Sequence

ENSEMBL: ENSMUSP00000140027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049452] [ENSMUST00000189066] [ENSMUST00000189588]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049452
AA Change: R198G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046021
Gene: ENSMUSG00000042757
AA Change: R198G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:TMEM108	61	574	1.6e-275	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189066
AA Change: R198G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141160
Gene: ENSMUSG00000042757
AA Change: R198G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	132	179	N/A	INTRINSIC
low complexity region	292	314	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189588
AA Change: R198G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140027
Gene: ENSMUSG00000042757
AA Change: R198G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	132	179	N/A	INTRINSIC
low complexity region	292	314	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC

Meta Mutation Damage Score

0.1052

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

MGI Phenotype

PHENOTYPE: Mice with drastically reduced expression exhibit decreased excitatory postsynaptic currents of dentate gyrate granule neurons, impaired sensorimotor gating, and behavioral deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,073,218	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Eri2	A	G	7: 119,793,916		probably null	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Mum1	C	A	10: 80,238,879		probably null	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcerg1l	A	G	7: 138,276,655	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly damaging	Het

Other mutations in Tmem108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Tmem108	APN	9	103484751	missense	probably benign	0.04
IGL02008:Tmem108	APN	9	103489240	missense	possibly damaging	0.85
IGL02318:Tmem108	APN	9	103499782	missense	probably benign	0.14
R0019:Tmem108	UTSW	9	103489340	missense	possibly damaging	0.93
R0092:Tmem108	UTSW	9	103489305	missense	possibly damaging	0.71
R0781:Tmem108	UTSW	9	103484690	missense	probably damaging	0.98
R1138:Tmem108	UTSW	9	103498969	missense	possibly damaging	0.71
R2090:Tmem108	UTSW	9	103484777	missense	possibly damaging	0.57
R2137:Tmem108	UTSW	9	103499963	missense	possibly damaging	0.71
R2520:Tmem108	UTSW	9	103489282	missense	possibly damaging	0.85
R4724:Tmem108	UTSW	9	103499489	missense	possibly damaging	0.86
R4883:Tmem108	UTSW	9	103499077	missense	possibly damaging	0.93
R5358:Tmem108	UTSW	9	103499518	missense	probably damaging	0.98
R6337:Tmem108	UTSW	9	103499761	missense	possibly damaging	0.95
R6888:Tmem108	UTSW	9	103499716	missense	probably damaging	1.00
R7223:Tmem108	UTSW	9	103499534	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCAGGTGTGACAGCAAGCCAAG -3'
(R):5'- TATCTCATCCAGAAGGGCACCCTC -3'

Sequencing Primer
(F):5'- TGATAAAGCCTGGCTTGTCC -3'
(R):5'- GACACCACGTCTACAGTGATGG -3'

Posted On

2013-05-09